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Single-cell transcriptomics reveals the molecular basis of human iPS cell differentiation into ectodermal ocular lineages.
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Esapa, Christopher T., McIlhinney, R. A. Jeffrey, Waite, Adrian J., Benson, Matthew A., Mirzayan, Jasmin, Piko, Henriett, Herczegfalvi, Ágnes, Horvath, Rita, Karcagi, Veronika, Walter, Maggie C., Lochmüller, Hanns, Rizkallah, Pierre J., Lu, Qi L. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Frontiers in Molecular Biosciences
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Stathopoulou, Konstantina, Schnittger, Josef, Raabe, Janice, Fleischer, Frederic, Mangels, Nils, Piasecki, Angelika, Findlay, Jane, Hartmann, Kristin, Krasemann, Susanne, Schlossarek, Saskia, Uebeler, June, Wixler, Viktor, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Baillie, George S., Carrier, Lucie, Ehler, Elisabeth and Cuello, Friederike
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CMYA5 is a novel interaction partner of FHL2 in cardiac myocytes.
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Nurm, Kaja, Sepp, Mari, Castany-Pladevall, Carla, Creus-Muncunill, Jordi, Tuvikene, Jürgen, Sirp, Alex, Vihma, Hanna, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Perez-Navarro, Esther and Timmusk, Tõnis
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Isoform-specific reduction of the basic Helix-Loop-Helix transcription factor TCF4 levels in Huntington's disease.
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Convergent evidence that ZNF804A is a regulator of pre-messenger RNA processing and gene expression.
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Lamb, Ruth, Rohrer, Jonathan D., Real, Raquel, Lubbe, Steven J., Waite, Adrian J., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Walters, R. Jon, Lashley, Tammaryn, Revesz, Tamas, Holton, Janice L. and Morris, Huw R.
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A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.
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Okumura, Naoki, Hayashi, Ryosuke, Nakano, Masakazu, Yoshii, Kengo, Tashiro, Kei, Sato, Takahiko, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Aleff, Ross, Butz, Malinda, Highsmith, Edward W., Wieben, Eric D., Fautsch, Michael P., Baratz, Keith H., Komori, Yuya, Nakahara, Makiko, Tourtas, Theofilos, Schlötzer-Schrehardt, Ursula, Kruse, Friedrich and Koizumi, Noriko
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Effect of trinucleotide repeat expansion on the expression of TCF4 mRNA in Fuchs' endothelial corneal dystrophy.
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Forrest, Marc P., Hill, Matthew J. ORCID: https://orcid.org/0000-0001-6776-8709, Kavanagh, David H., Tansey, Katherine E., Waite, Adrian J. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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The psychiatric risk gene transcription factor 4 (TCF4) regulates neurodevelopmental pathways associated with schizophrenia, autism, and intellectual disability.
Schizophrenia Bulletin
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Gyöngyösi, Mariann, Haller, Paul M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Martin Rendon, Enca
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Meta-analysis of cell therapy studies in heart failure and acute myocardial infarction.
Circulation Research
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Ryanodine receptors are part of the myospryn complex in cardiac muscle.
Scientific Reports
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Petit, Emilie I, Michalak, Zuzanna, Cox, Rachel, O'Tuathaigh, Colm M P, Clarke, Niamh, Tighe, Orna, Talbot, Konrad, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Joel, Josephine, Shaw, Alexander, Sheardown, Steven A, Morrison, Alastair D, Wilson, Stephen, Shapland, Ellen M, Henshall, David C, Kew, James N, Kirby, Brian P and Waddington, John L
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Dysregulation of specialized delay/interference-dependent working memory following loss of Dysbindin-1A in schizophrenia-related phenotypes.
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Harvey, Emma, Zhang, Huajun, Sepúlveda, Pilar, Garcia, Sara P., Sweeney, Dominic, Choudry, Fizzah A., Castellano, Delia, Thomas, George N., Kattach, Hassan, Petersen, Romina, Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Taggart, David P., Frontini, Mattia, Watt, Suzanne M. and Martin-Rendon, Enca
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Potency of human cardiosphere-derived cells from patients with ischemic heart disease is associated with robust vascular supportive ability.
Stem Cells Translational Medicine
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Xiao, Jianfeng, Vemula, Satya R., Xue, Yi, Khan, Mohammad M., Carlisle, Francesca A. ORCID: https://orcid.org/0000-0002-9734-113X, Waite, Adrian J., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Dragatsis, Ioannis, Zhao, Yu and LeDoux, Mark S.
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Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.
Neurobiology of Disease
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Grütz, Karen, Seibler, Philip, Weissbach, Anne, Lohmann, Katja, Carlisle, Francesca ORCID: https://orcid.org/0000-0002-9734-113X, Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Westenberger, Ana, Klein, Christine and Grünewald, Anne
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Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
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Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.
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Koppers, Max, Blokhuis, Anna M., Westeneng, Henk-Jan, Terpstra, Margo L., Zundel, Caroline A. C., Vieira de Sá, Renata, Schellevis, Raymond D., Waite, Adrian J., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Veldink, Jan H., van den Berg, Leonard H. and Pasterkamp, R. Jeroen
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C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
Annals of Neurology
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Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Kurian, Manju A., Wardle, Mark, Waite, Adrian J., Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip E., Lynch, Bryan, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Morris, Huw R.
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SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
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Hill, Matthew ORCID: https://orcid.org/0000-0001-6776-8709, Forrest, Marc P., Martin-Rendon, Enca and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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Association of Transcription Factor 4 (TCF4) variants with schizophrenia and intellectual disability.
Current Behavioral Neuroscience Reports
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SGCZ mutations are unlikely to be associated with myoclonus dystonia.
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Waite, Adrian, Bäumer, Dirk, East, Simon, Neal, James, Morris, H., Ansorge, Olaf and Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731
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Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.
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Forrest, Marc, Hill, Matthew J., Quantock, Andrew James ORCID: https://orcid.org/0000-0002-2484-3120, Martin-Rendon, Enca and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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The emerging roles of TCF4 in disease and development.
Trends in Molecular Medicine
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Xu, Lei, Lu, Pei Juan, Wang, Chi-Hsien, Keramaris, Elizabeth, Qiao, Chunping, Xiao, Bin, Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731, Xiao, Xiao and Lu, Qi Long
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Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions.
Molecular Therapy
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Forrest, Marc, Waite, Adrian James, Martin-Rendon, Enca and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation.
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Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Smith, Daniel J., Kurian, Manju A., Wardle, Mark, Waite, Adrian James, Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip, Bajaj, Narinder, Lynch, Bryan, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Morris, Huw Rees
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SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
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Forrest, Marc, Chapman, Ria M., Doyle, Anne Michelle, Tinsley, Caroline L., Waite, Adrian James and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
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Waite, Adrian James, Brown, Susan C. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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The dystrophin-glycoprotein complex in brain development and disease [Review].
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Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease [Abstract].
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Morris, Huw Rees, Waite, Adrian James, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Neal, James William and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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Recent advances in the genetics of the ALS-FTLD complex.
Current Neurology and Neuroscience Reports
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Chapman, Ria M., Tinsley, Caroline L., Doyle, A. Michelle, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Blake, Derek John ORCID: https://orcid.org/0000-0002-5005-4731
2012.
Inducible over-expression and siRNA mediated knock-down of the schizophrenia susceptibility gene ZNF804A: Detection of altered gene expression and splicing using whole genome exon arrays.
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Waite, Adrian James, De Rosa, Maria Cristina, Brancaccio, Andrea and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
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Renton, Alan E., Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Waite, Adrian James, Simón-Sánchez, Javier, Rollinson, Sara, Gibbs, J. Raphael, Schymick, Jennifer C., Laaksovirta, Hannu, van Swieten, John C., Myllykangas, Liisa, Kalimo, Hannu, Paetau, Anders, Abramzon, Yevgeniya, Remes, Anne M., Kaganovich, Alice, Scholz, Sonja W., Duckworth, Jamie, Ding, Jinhui, Harmer, Daniel W., Hernandez, Dena G., Johnson, Janel O., Mok, Kin, Ryten, Mina, Trabzuni, Danyah, Guerreiro, Rita J., Orrell, Richard W., Neal, James William, Murray, Alexandra, Pearson, Justin Peter, Jansen, Iris E., Sondervan, David, Seelaar, Harro, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Young, Kate, Halliwell, Nicola, Callister, Janis Bennion, Toulson, Greg, Richardson, Anna, Gerhard, Alex, Snowden, Julie, Mann, David, Neary, David, Nalls, Michael A., Peuralinna, Terhi, Jansson, Lilja, Isoviita, Veli-Matti, Kaivorinne, Anna-Lotta, Hölttä-Vuori, Maarit, Ikonen, Elina, Sulkava, Raimo, Benatar, Michael, Wuu, Joanne, Chiò, Adriano, Restagno, Gabriella, Borghero, Giuseppe, Sabatelli, Mario, Heckerman, David, Rogaeva, Ekaterina, Zinman, Lorne, Rothstein, Jeffrey D., Sendtner, Michael, Drepper, Carsten, Eichler, Evan E., Alkan, Can, Abdullaev, Ziedulla, Pack, Svetlana D., Dutra, Amalia, Pak, Evgenia, Hardy, John, Singleton, Andrew, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Heutink, Peter, Pickering-Brown, Stuart, Morris, Huw Rees, Tienari, Pentti J. and Traynor, Bryan J.
2011.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
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Talbot, Konrad, Louneva, Natalia, Cohen, Julia W., Kazi, Hala, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Arnold, Steven E.
2011.
Synaptic dysbindin-1 reductions in schizophrenia occur in an isoform-specific manner indicating their subsynaptic location.
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Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Waite, Adrian James, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Morris, Huw Rees
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Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.
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Lu, Pei J., Zillmer, Allen, Wu, XiaoHua, Lochmuller, Hanns, Vachris, Judy, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Chan, Yiumo Michael and Lu, Qi L.
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Mutations alter secretion of fukutin-related protein.
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Chan, Y. M., Keramaris-Vrantsis, E., Lidov, H. G., Norton, J. H., Zinchenko, N., Gruber, H. E., Thresher, R., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Ashar, J., Rosenfeld, J. and Lu, Q. L.
2010.
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
Human Molecular Genetics
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Borg, Kristian, Stucka, Rolf, Locke, Matthew, Melin, Eva, Åhlberg, Gabrielle, Klutzny, Ursula, Von Der Hagen, Maja, Huebner, Angela, Lochmüller, Hanns, Wrogemann, Klaus, Thornell, Lars-Eric, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Schoser, Benedikt
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Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.
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Locke, Matthew, Tinsley, Caroline L., Benson, Matthew A. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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TRIM32 is an E3 ubiquitin ligase for dysbindin.
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10.1093/hmg/ddp167
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Waite, Adrian James, Tinsley, Caroline L., Locke, Matthew and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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The neurobiology of the dystrophin-associated glycoprotein complex.
Annals of Medicine
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Tang, Junxia, LeGros, Robert P., Louneva, Natalia, Yeh, Lilly, Cohen, Julia W., Hahn, Chang-Gyu, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Arnold, Steven E. and Talbot, Konrad
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Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression.
Human Molecular Genetics
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Hjermind, L. E., Vissing, J., Asmus, F., Krag, T., Lochmüller, H., Walter, M. C., Erdal, J., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Nielsen, J. E.
2008.
No muscle involvement in myoclonus-dystonia caused by
ɛ-sarcoglycan gene mutations.
European Journal of Neurology
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Keramaris-Vrantsis, Elizabeth, Lu, Pei J., Doran, Timothy, Zillmer, Allen, Ashar, Jignya, Esapa, Christopher T., Benson, Matthew A., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Rosenfeld, Jeffrey and Lu, Qi L.
2007.
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
Muscle & Nerve
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Schröder, Jörn E., Tegeler, Marion R., Großhans, Uli, Porten, Elmar, Blank, Martina, Lee, Jun, Esapa, Chris, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Kröger, Stephan
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Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNS.
Developmental Biology
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Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731
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Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.
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Esapa, Christopher T., Waite, Adrian James, Locke, Matthew, Benson, Matthew A., Kraus, Michaela, McIlhinney, R. A. Jeffrey, Sillitoe, Roy V., Beesley, Philip W. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
Human Molecular Genetics
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Martin-Rendon, E. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
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Patenting human genes and stem cells.
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Talbot, Konrad, Cho, Dan-Sung, Ong, Wei-Yi, Benson, Matthew A., Han, Li-Ying, Kazi, Hala A., Kamins, Joshua, Hahn, Chang-Gyu, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Arnold, Steven E.
2006.
Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.
Human Molecular Genetics
15
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10.1093/hmg/ddl246
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Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Esapa, C. T. and McIlhinney, R. A.
2005.
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
Human Molecular Genetics
14
(2)
, pp. 295-305.
10.1093/hmg/ddi026
|
|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Esapa, C. T., Martin-Rendon, E. and McIlhinney, R. A.
2005.
Glycosylation defects and muscular dystrophy.
Advances in Experimental Medicine and Biology
564
, pp. 97-98.
10.1007/0-387-25515-X_15
|
|
Lien, Chun Fu, Vlachouli, Christina, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Simons, J. Paul and Górecki, Dariusz C.
2004.
Differential spatio-temporal expression of alpha-dystrobrevin-1 during mouse development.
Gene Expression Patterns
4
(5)
, pp. 583-593.
10.1016/j.modgep.2004.01.015
|
|
Benson, Matthew A., Sillitoe, Roy V. and Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731
2004.
Schizophrenia genetics: dysbindin under the microscope.
Trends in Neurosciences
27
(9)
, pp. 516-519.
10.1016/j.tins.2004.06.004
|
|
Talbot, Konrad, Eidem, Wess L., Tinsley, Caroline L., Benson, Matthew A., Thompson, Edward W., Smith, Rachel J., Hahn, Chang-Gyu, Siegel, Steven J., Trojanowski, John Q., Gur, Raquel E., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Arnold, Steven E.
2004.
Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia.
The Journal of Clinical Investigation
113
(9)
, pp. 1353-1363.
10.1172/JCI200420425
|
|
|
Talbot, Konrad, Eidem, Wess L., Tinsley, Caroline L., Benson, Matthew A., Thompson, Edward W., Smith, Rachel J., Hahn, Chang-Gyu, Siegel, Steven J., Trojanowski, John Q., Gur, Raquel E., Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731 and Arnold, Steven E.
2004.
Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia.
The Journal of Clinical Investigation
113
(9)
, pp. 1353-1363.
10.1172/JCI200420425
|
|
Benson, Matthew A., Tinsley, Caroline L. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
2004.
Myospryn is a novel binding partner for dysbindin in muscle.
Journal of Biological Chemistry
279
(11)
, pp. 10450-10458.
10.1074/jbc.M312664200
|
|
Esapa, Chris T., Bentham, Graham R. B., Schröder, Jörn E., Kröger, Stephan and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
2003.
The effects of post-translational processing on dystroglycan synthesis and trafficking.
FEBS Letters
555
(2)
, pp. 209-216.
10.1016/S0014-5793(03)01230-4
|
|
Burgueno, Javier, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Benson, Matthew A., Tinsley, Caroline L., Esapa, Christopher T., Canela, Enric I., Penela, Petronila, Mallol, Josefa, Mayor Jr., Federico, Lluis, Carmen, Franco, Rafael and Ciruela, Francisco
2003.
The adenosine A2A receptor interacts with the actin-binding protein α-actinin.
Journal of Biological Chemistry
278
(39)
, pp. 37545-37552.
10.1074/jbc.M302809200
|
|
Li, Wei, Zhang, Qing, Oiso, Naoki, Novak, Edward K., Gautam, Rashi, O'Brien, Edward P., Tinsley, Caroline L., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Spritz, Richard A., Copeland, Neal G., Jenkins, Nancy A., Amato, Dominick, Roe, Bruce A., Starcevic, Marta, Dell'Angelica, Esteban C., Elliott, Rosemary W., Mishra, Vishnu, Kingsmore, Stephen F., Paylor, Richard E. and Swank, Richard T.
2003.
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) [Letter].
Nature Genetics
35
(1)
, pp. 84-89.
10.1038/ng1229
|
|
Muntoni, F, Valero de Bernabe, B, Bittner, R, Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, van Bokhoven, H, Brockington, M, Brown, S, Bushby, K, Campbell, K.P, Fiszman, M, Gruenewald, S, Merlini, L, Quijano-Roy, S, Romero, N, Sabatelli, P, Sewry, C.A, Straub, V, Talim, B, Topaloglu, H, Voit, T, Yurchenco, P.D, Urtizberea, J.A, Wewer, U.M and Guicheney, P
2003.
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17?19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
Neuromuscular Disorders
13
(7-8)
, pp. 579-588.
10.1016/S0960-8966(03)00072-5
|
|
Sillitoe, Roy V., Benson, Matthew A., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Hawkes, Richard
2003.
Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy.
Journal of Neuroscience
23
(16)
, pp. 6576-6585.
|
|
|
Sillitoe, R.V., Benson, M.A., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731 and Hawkes, R.
2003.
Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy.
Journal of Neuroscience
23
(16)
, pp. 6576-6585.
|
|
Mercuri, Eugenio, Brockington, Martin, Straub, Volker, Quijano-Roy, Susana, Yuva, Yeliz, Herrmann, Ralf, Brown, Susan C., Torelli, Silvia, Dubowitz, Victor, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Romero, Norma B., Estournet, Brigitte, Sewry, Caroline A., Guicheney, Pascale, Voit, Thomas and Muntoni, Francesco
2003.
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Annals of Neurology
53
(4)
, pp. 537-542.
10.1002/ana.10559
|
|
Martin-Rendon, Enca and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
2003.
Protein glycosylation in disease: new insights into the congenital muscular dystrophies.
Trends in Pharmacological Sciences
24
(4)
, pp. 178-183.
10.1016/S0165-6147(03)00050-6
|
|
Topaloglu, H., Brockington, M., Yuva, Y., Talim, B., Haliloglu, G., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Torelli, S., Brown, S.C. and Muntoni, F.
2003.
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Neurology
60
(6)
, pp. 988-992.
10.1212/01.WNL.0000052996.14099.DC
|
|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Martin-Rendon, E., Schroder, J. E. and Benson, M. A.
2002.
Functional requirements for fukutin-related protein in the Golgi apparatus.
Human Molecular Genetics
11
(26)
, pp. 3319-3331.
10.1093/hmg/11.26.3319
|
|
Muntoni, Francesco, Brockington, Martin, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Torelli, Silvia and Brown, Susan C.
2002.
Defective glycosylation in muscular dystrophy.
The Lancet
360
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, pp. 1419-1421.
10.1016/S0140-6736(02)11397-3
|
|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Martin-Rendon, Enca
2002.
Intermediate filaments and the function of the dystrophin-protein complex.
Trends in Cardiovascular Medicine
12
(5)
, pp. 224-228.
10.1016/S1050-1738(02)00166-4
|
|
Blank, M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Kröger, S.
2002.
Molecular diversity of the dystrophin-like protein complex in the developing and adult avian retina.
Neuroscience
111
(2)
, pp. 259-273.
10.1016/S0306-4522(02)00032-5
|
|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Weir, Andrew, Newey, Sarah E. and Davies, Kay E.
2002.
Function and genetics of dystrophin and dystrophin-related proteins in muscle.
Physiological Reviews
82
(2)
, pp. 291-329.
10.1152/physrev.00028.2001
|
|
Brockington, M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Brown, Susan C. and Muntoni, Francesco
2002.
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I [Editorial].
Neuromuscular Disorders
12
(3)
, pp. 233-234.
10.1016/S0960-8966(01)00325-X
|
|
Marangi, P. Angelo, Forsayeth, John R., Mittaud, Peggy, Erb-Vögtli, Susanne, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Moransard, Martijn, Sander, Andreas and Fuhrer, Christian
2001.
Acetylcholine receptors are required for agrin-induced clustering of postsynaptic proteins.
The EMBO Journal
20
(24)
, pp. 7060-7073.
10.1093/emboj/20.24.7060
|
|
Brockington, Martin, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Prandini, Paola, Brown, Susan C., Torelli, Silvia, Benson, Matthew A., Ponting, Chris P., Estournet, Brigitte, Romero, Norma B., Mercuri, Eugenio, Voit, Thomas, Sewry, Caroline A., Guicheney, Pascale and Muntoni, Francesco
2001.
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin 2 deficiency and abnormal glycosylation of -dystroglycan.
American Journal of Human Genetics
69
(6)
, pp. 1198-1209.
10.1086/324412
|
|
Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Brockington, M, Muntoni, F and Benson, M. A.
2001.
Golgi-localisation of fukutin and fukutin-related protein: implications for muscular dystrophy.
Molecular Biology of the Cell
12
, 85A-85A.
|
|
Loh, Nellie Y., Nebenius-Oosthuizen, Daniela, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Smith, Andrew J. H. and Davies, Kay E.
2001.
Role of β-dystrobrevin in nonmuscle dystrophin-associated protein complex-like complexes in kidney and liver.
Molecular and Cellular Biology
21
(21)
, pp. 7442-7448.
10.1128/MCB.21.21.7442-7448.2001
|
|
|
Brickington, M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Prandini, P., Brown, S. C., Torelli, S., Benson, M. A., Ponting, C.P., Estournet, B., Romero, N., Voit, T., Sewry, C. A., Guincheney, P. and Muntoni, F.
2001.
A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan.
American Journal of Human Genetics
69
(4)
, p. 229.
|
|
Brockington, Martin, Prandini, P., Brown, Susan C., Sewry, Caroline A., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Muntoni, Francesco
2001.
A new gene encoding a fukutin-like protein and its analysis in patients with congenital muscular dystrophy [Abstract].
Neuromuscular Disorders
11
(6-7)
, p. 635.
|
|
Benson, Matthew A., Newey, Sarah E., Martin-Rendon, Enca, Hawkes, Richard and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
2001.
Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain.
Journal of Biological Chemistry
276
(26)
, pp. 24232-24241.
10.1074/jbc.M010418200
|
|
Newey, Sarah E., Howman, Emily V., Ponting, Chris P., Benson, Matthew A., Nawrotzki, Ralph, Loh, Nellie Y., Davies, Kay E. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
2001.
Syncoilin, a novel member of the intermediate filament superfamily that interacts with α-dystrobrevin in skeletal muscle.
Journal of Biological Chemistry
276
(9)
, pp. 6645-6655.
10.1074/jbc.M008305200
|
|
Newey, S. E., Howman, E. V., Ponting, C. P., Benson, M. A., Nawrotzki, R., Loh, N. Y., Davies, K. E. and Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731
2001.
Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle.
Journal of Biological Chemistry
276
(9)
, pp. 6645-6655.
10.1074/jbc.M008305200
|
|
Newey, S. E., Gramolini, A. O., Wu, J., Holzfeind, P., Jasmin, B. J., Davies, K. E. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
2001.
A novel mechanism for modulating synaptic gene expression: differential localization of alpha-dystrobrevin transcripts in skeletal muscle.
Molecular and Cellular Neuroscience
17
(1)
, pp. 127-140.
10.1006/mcne.2000.0918
|
|
Newey, Sarah E., Gramolini, Anthony O., Wu, Jun, Holzfiend, Paul, Jasmin, Bernard J., Davies, Kay E. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
2001.
A novel mechanism for modulating synaptic gene expression: differential localization of α-dystrobrevin transcripts in skeletal muscle.
Molecular and Cellular Neuroscience
17
(1)
, pp. 127-140.
10.1006/mcne.2000.0918
|
|
Newey, Sarah E., Benson, Matthew A., Ponting, Chris P., Davies, Kay E. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
2000.
Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex.
Current Biology
10
(20)
, pp. 1295-1298.
10.1016/S0960-9822(00)00760-0
|
|
Loh, Nellie Y., Newey, Sarah E., Davies, Kay E. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
2000.
Assembly of multiple dystrobrevin-containing complexes in the kidney.
Journal of Cell Science
113
(15)
, pp. 2715-2724.
|
|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Kröger, Stephan
2000.
The neurobiology of Duchenne muscular dystrophy: learning lessons from muscle?
Trends in Neurosciences
23
(3)
, pp. 92-99.
10.1016/S0166-2236(99)01510-6
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Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Hawkes, Richard, Benson, Matthew A. and Beesley, Phillip W.
1999.
Different dystrophin-like complexes are expressed in neurons and glia.
Journal of Cell Biology
147
(3)
, pp. 645-658.
10.1083/jcb.147.3.645
|
|
|
Blank, Martina, Koulen, Peter, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Kröger, Stephan
1999.
Dystrophin and beta-dystroglycan in photoreceptor terminals from normal and mdx3Cv mouse retinae.
European Journal of Neuroscience
11
(6)
, pp. 2121-2133.
10.1046/j.1460-9568.1999.00636.x
|
|
Holzfeind, Paul J., Ambrose, Helen J., Newey, Sarah E., Nawrotzki, Ralph A., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Davies, Kay E.
1999.
Tissue-selective Expression of alpha-Dystrobrevin is Determined by Multiple Promoters.
Journal of Biological Chemistry
274
(10)
, pp. 6250-6258.
10.1074/jbc.274.10.6250
|
|
Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Benson, M. A., Hawkes, R. and Beesley, P. W.
1999.
Dystrophin-binding proteins in the brain.
Journal of Neurochemistry
73
, S93-S93.
|
|
Loh, N. Y., Ambrose, H. J., Guay-Woodford, L. M., DasGupta, S., Nawrotzki, R. A., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731 and Davies, K. E.
1998.
Genomic organization and refined mapping of the mouse beta-dystrobrevin gene.
Mammalian Genome
9
(11)
, pp. 857-862.
|
|
Loh, Nellie Y., Ambrose, Helen J., Guay-Woodford, Lisa M., DasGupta, Srimita, Nawrotzki, Ralph A., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Davies, Kay E.
1998.
Genomic organization and refined mapping of the mouse β-dystrobrevin gene.
Mammalian Genome
9
(11)
, pp. 857-862.
10.1007/s003359900883
|
|
Nawrotzki, Ralph, Loh, Nellie Y., Ruegg, M. A., Davies, Kay E. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
1998.
Characterisation of alpha-dystrobrevin in muscle.
Journal of Cell Science
111
(17)
, pp. 2595-2605.
|
|
Vater, Ruth, Young, Carol, Anderson, Louise V. B., Lindsay, Susan, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Davies, Kay E., Zuellig, Richard and Slater, Clarke R.
1998.
Utrophin mRNA expression in muscle is not restricted to the neuromuscular junction.
Molecular and Cellular Neuroscience
10
(5-6)
, pp. 229-242.
10.1006/mcne.1998.0661
|
|
Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Nawrotzki, Ralph, Loh, Nellie Y., Gorecki, Dariusz C. and Davies, Kay E.
1998.
β-dystrobrevin, a member of the dystrophin-related protein family.
Proceedings of the National Academy of Sciences of the United States of America
95
(1)
, pp. 241-246.
|
|
Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Nawrotzki, R., Loh, N. Y., Gorecki, D. C. and Davies, K. E.
1998.
beta-dystrobrevin, a member of the dystrophin-related protein family.
Proceedings of the National Academy of Sciences of the United States of America
95
(1)
, pp. 241-246.
10.1073/pnas.95.1.241
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|
Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Loh, N. Y., Beesley, P. and Davies, K. E.
1997.
The function dystrophin-related and -associated proteins in the brain.
Journal of Neurochemistry
69
(S)
, S123-S123.
|
|
Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Nawrotzki, R., Loh, N. Y. and Davies, K. E.
1997.
A novel dystrophin-associated protein in brain.
American Journal of Human Genetics
61
(4)
, A8-A8.
|
|
Loh, N. Y., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Nawrotzki, R., Ambrose, H. J. and Davies, K. E.
1997.
Beta-dystrobrevin; a new member of the dystrophin-related protein family.
American Journal of Human Genetics
61
(4)
, A177-A177.
|
|
Metzinger, Laurent, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Squier, Marian V., Anderson, Louise V. B., Deconinck, Anne E., Nawrotzki, Ralph, Hilton-Jones, David and Davies, Kay E.
1997.
Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.
Human Molecular Genetics
6
(7)
, pp. 1185-1191.
10.1093/hmg/6.7.1185
|
|
Ponting, Christopher P., Phillips, Christopher, Davies, Kay E. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731
1997.
PDZ domains: targeting signalling molecules to sub-membranous sites.
Bioessays
19
(6)
, pp. 469-479.
10.1002/bies.950190606
|
|
Ambrose, Helen J., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Nawrotzki, Ralph A. and Davies, Kay E.
1997.
Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene.
Genomics
39
(3)
, pp. 359-369.
10.1006/geno.1996.4515
|
|
Picketts, David J., Higgs, Douglas R., Bachoo, Satvinder, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Quarrel, Oliver W. J. and Gibbons, Richard J.
1996.
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
Human Molecular Genetics
5
(12)
, pp. 1899-1907.
10.1093/hmg/5.12.1899
|
|
Morrison, K. E., Qureshi, S. J., Anderson, S., Borrett, J. P., Theodosiou, A., Rodrigues, N., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Nesbit, A., Davies, K. E., Porteous, D. J. and Brookes, A. J.
1996.
Novel transcribed sequences represented in the complex genomic region 5q13.
Acta Biochimica et Biophysica
1308
(2)
, pp. 97-102.
10.1016/0167-4781(96)00097-8
|
|
Nawrotzki, Ralph, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Davies, Kay E.
1996.
The genetic basis of neuromuscular disorders.
Trends in Genetics
12
(8)
, pp. 294-298.
10.1016/0168-9525(96)10033-0
|
|
Theodosiou, A. M., Rodrigues, N. R., Nesbit, M. A., Ambrose, Helen J., Paterson, H., McLellan-Arnold, E., Boyd, Y., Leversha, M. A., Owen, N., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Ashworth, A. and Davies, Kay E.
1996.
A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region.
Human Molecular Genetics
5
(5)
, pp. 675-684.
10.1093/hmg/5.5.675
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|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Nawrotzki, Ralph A., Peters, Matthew F., Froehner, Stanley C. and Davies, Kay E.
1996.
Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein.
Journal of Biological Chemistry
271
(13)
, pp. 7802-7810.
10.1074/jbc.271.13.7802
|
|
Zuelling, R. A., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Tinsley, J. M. and Davies, K. E.
1996.
Cloning of the rat utrophin and characterization of an alternate transcript.
Journal of Muscle Research and Cell Motility
17
(1)
, p. 110.
|
|
Zuellig, Richard A., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Tinsley, Jonathon M. and Davies, Kay E.
1996.
Cloning of the rat utrophin and characterization of an
alternate transcript.
Journal of Muscle Research and Cell Motility
17
(1)
, p. 110.
|
|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Tinsley, Jonathon M. and Davies, Kay E.
1996.
Utrophin: a structural and functional comparison to dystrophin.
Brain Pathology
6
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, pp. 37-47.
10.1111/j.1750-3639.1996.tb00781.x
|
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Ponting, Chris P., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Davies, Kay E., Kendrick-Jones, John and Winder, Steven J.
1996.
ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins.
Trends in Biochemical Sciences
21
(1)
, pp. 11-13.
10.1016/S0968-0004(06)80020-4
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Millwood, I. Y., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Gauguier, D. and Monaco, A. P.
1995.
Two polymorphic dinucleotide repeats in the rat dystrophin gene, including the conserved 3' UTR repeat.
Mammalian Genome
6
(9)
, pp. 668-669.
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Davies, K. E., Tinsley, J. M. and Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731
1995.
Molecular analysis of Duchenne muscular dystrophy: past, present, and future.
Annals of the New York Academy of Sciences
758
, pp. 287-296.
10.1111/j.1749-6632.1995.tb24834.x
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Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Schofield, Julian N., Zuellig, Richard A., Górecki, Dariusz C., Phelps, S. R., Barnard, E. A., Edwards, Y. H. and Davies, Kay E.
1995.
G-Utrophin, the autosomal homologue of dystrophin Dp116, is expressed in sensory ganglia and brain.
Proceedings of the National Academy of Sciences of the United States of America
92
(9)
, pp. 3697-3701.
10.1073/pnas.92.9.3697
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Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Tinsley, Jonathon M., Davies, Kay E., Knight, Alex E., Winder, Stephen J. and Kendrick-Jones, John
1995.
Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions.
Trends in Biochemical Sciences
20
(4)
, pp. 133-135.
10.1016/S0968-0004(00)88986-0
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Pasquini, F., Guerin, C., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Davies, K., Karpati, G. and Holland, P.
1995.
The effect of glucocorticoids on the accumulation of utrophin by cultured normal and dystrophic human skeletal muscle satellite cells.
Neuromuscular Disorders
5
(2)
, pp. 105-114.
10.1016/0960-8966(94)00042-8
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Brookes, A. J., Slorach, E. M., Morrison, K. E., Qureshi, S. J., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Davies, K. and Porteous, D. J.
1994.
Cloning the shared components of complex DNA resources.
Human Molecular Genetics
3
(11)
, pp. 2011-2017.
10.1093/hmg/3.11.2011
|
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Tinsley, Jonathon M, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Zuellig, Richard A. and Davies, Kay E.
1994.
Increasing complexity of the dystrophin-associated protein complex.
Proceedings of the National Academy of Sciences of the United States of America
91
(18)
, pp. 8307-8313.
|
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Schofield, Julian N., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Simmons, Catherine, Morris, Glenn E., Tinsley, Jonathon M., Davies, Kay E. and Edwards, Yvonne H.
1994.
Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines.
Human Molecular Genetics
3
(8)
, pp. 1309-1316.
10.1093/hmg/3.8.1309
|
|
Davies, K.E., Tinsley, J, Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Pearce, M, Deconick, A and Dennis, C
1994.
Possible roles for utrophin in gene-therapy of duchenne muscular-dystrophy.
Journal of Cellular Biochemistry
1994
(18A)
, p. 188.
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Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Tinsley, Jonathon M. and Davies, Kay E.
1994.
The emerging family of dystrophin-related proteins.
Trends in Cell Biology
4
(1)
, pp. 19-23.
10.1016/0962-8924(94)90034-5
|
|
Pearce, Marcela, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Tinsley, Jonathon M., Byth, Barbara C., Campbell, Louise, Monaco, Anthony P. and Davies, Kay E.
1993.
The utrophin and dystrophin genes share similarities in genomic structure.
Human Molecular Genetics
2
(11)
, pp. 1765-1772.
10.1093/hmg/2.11.1765
|
|
Tinsley, Jonathon M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Pearce, Marcela, Knight, Alex E., Kendrick-Jones, John and Davies, Kay E.
1993.
Dystrophin and related proteins.
Current Opinion in Genetics & Development
3
(3)
, pp. 484-490.
10.1016/0959-437X(93)90124-8
|
|
Tinsley, Jonathon M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Davies, Kay E.
1993.
Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site.
Human Molecular Genetics
2
(5)
, pp. 521-524.
10.1093/hmg/2.5.521
|
|
Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731
1993.
Dystrophin and dystrophin-related proteins: a review of protein and RNA studies.
Neuromuscular Disorders
3
(1)
, pp. 5-21.
10.1016/0960-8966(93)90037-K
|
|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Love, Donald R., Tinsley, Jonathon, Morris, Glenn E., Turley, Helen, Gatter, Kevin, Dickson, George, Edwards, Yvonne H. and Davies, Kay E.
1992.
Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells.
Human Molecular Genetics
1
(2)
, pp. 103-109.
10.1093/hmg/1.2.103
|
|
Tinsley, Jonathon M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Roche, A., Fairbrother, U., Riss, J., Byth, Barbara C., Knight, Alex E., Kendrick-Jones, John, Suthers, G. K., Love, Donald R., Edwards, Y. H. and Davies, Kay E.
1992.
Primary structure of dystrophin-related protein.
Nature
360
(6404)
, pp. 591-593.
10.1038/360591a0
|
|
thi Man, Nguyen, Thanh, LeThiet, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Davies, K .E. and Morris, G. E.
1992.
Utrophin, the autosomal homologue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines.
FEBS Letters
313
(1)
, pp. 19-22.
10.1016/0014-5793(92)81174-K
|
|
Coleman, M. P., Murray, J. C., Willard, H. F., Nolan, K. F., Reid, K. B. M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Lindsay, S., Bhattacharya, S. S., Wright, A. and Davies, K. E.
1991.
Genetic and physical mapping around the properdin P gene.
Genomics
11
(4)
, pp. 991-996.
10.1016/0888-7543(91)90024-9
|
|
Sellar, G. C., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Reid, K. B.
1991.
Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q.
Biochemical Journal
274
(2)
, pp. 481-490.
|
|
Sellar, G C, Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731 and Reid, K B
1991.
Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q.
Biochemical Journal
274
(2)
, pp. 481-490.
10.1042/bj2740481
|
|
Knott, V., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Brownlee, G. G.
1989.
Completion of the detailed restriction map of the E.coli genome by the isolation of overlapping cosmid clones.
Nucleic Acids Research
17
(15)
, pp. 5901-5912.
10.1093/nar/17.15.5901
|
|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Brownlee, G. G.
1989.
Deletion of the MCF.2 transforming gene in 2 Hemophilia-B inhibitor patients [Abstract].
Cytogenetics and Cell Genetics
51
(1-4)
, p. 963.
|
|
Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731 and Brownlee, G.G.
1989.
Deletion of the mcf.2 transforming gene in 2 hemophilia-b inhibitor patients.
Cytogenetics and Cell Genetics
51
(1-4)
, p. 963.
|
|
Anson, D. S., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Winship, P. R., Birnbaum, D. and Brownlee, G. G.
1988.
Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.
EMBO Journal
7
(9)
, pp. 2795-2799.
|
|
Anson, D.S., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Winship, P.R., Birnbaum, D. and Brownlee, G.G.
1988.
Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.
EMBO Journal
7
(9)
, pp. 2795-2799.
|
|
Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Knott, V. and Brownlee, G.
1987.
A random cosmid contig approach to gene-mapping [Abstract].
Cytogenetics and Cell Genetics
46
(1-4)
, p. 581.
10.1159/000316989
|
|
Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Knott, V. and Brownlee, G.G.
1987.
A random cosmid contig approach to gene-mapping.
Cytogenetics and Cell Genetics
46
(1)
, p. 581.
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